先天性第XI因子欠乏症

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000128.4(F11):c.1716+1G>A	F11	Pathogenic	4	187208978	187208978	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212929,OMIM:264900.0001
single nucleotide variant	NM_000128.4(F11):c.403G>T (p.Glu135Ter)	F11	Pathogenic	4	187195347	187195347	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA121745,OMIM:264900.0002
single nucleotide variant	NM_000128.4(F11):c.901T>C (p.Phe301Leu)	F11	Pathogenic	4	187201412	187201412	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA121748,UniProtKB:P03951#VAR_006622,OMIM:264900.0003
single nucleotide variant	NM_000128.4(F11):c.438C>A (p.Cys146Ter)	F11	Pathogenic/Likely pathogenic	4	187195382	187195382	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA121752,OMIM:264900.0007
single nucleotide variant	NM_000128.4(F11):c.976C>T (p.Arg326Cys)	F11	Likely pathogenic	4	187201487	187201487	C	T	criteria provided, single submitter	ClinGen:CA121757,UniProtKB:P03951#VAR_012090,OMIM:264900.0009
single nucleotide variant	NM_000128.4(F11):c.1782C>A (p.Ser594Arg)	F11	Pathogenic	4	187209672	187209672	C	A	criteria provided, single submitter	ClinGen:CA121761,UniProtKB:P03951#VAR_012096,OMIM:264900.0011
single nucleotide variant	NM_000128.4(F11):c.166T>C (p.Cys56Arg)	F11	Pathogenic/Likely pathogenic	4	187192873	187192873	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA121763,UniProtKB:P03951#VAR_054895,OMIM:264900.0012
single nucleotide variant	NM_000128.4(F11):c.1253G>T (p.Gly418Val)	F11	Likely pathogenic	4	187205363	187205363	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA121767,UniProtKB:P03951#VAR_054901,OMIM:264900.0014
single nucleotide variant	NM_000128.4(F11):c.1207G>A (p.Val403Met)	F11	Likely pathogenic	4	187205317	187205317	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA219102,UniProtKB:P03951#VAR_067946,UniProtKB/Swiss-Prot:VAR_067946
single nucleotide variant	NM_000128.4(F11):c.1724C>T (p.Ser575Leu)	F11	Likely pathogenic	4	187209614	187209614	C	T	criteria provided, single submitter	ClinGen:CA219128,UniProtKB:P03951#VAR_067953,UniProtKB/Swiss-Prot:VAR_067953